ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.9317_9336del (p.Thr3106fs)

gnomAD frequency: 0.00003  dbSNP: rs1326370032
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673873 SCV000799125 likely pathogenic Retinitis pigmentosa 25 2018-04-12 criteria provided, single submitter clinical testing
Invitae RCV001058261 SCV001222819 pathogenic not provided 2024-01-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr3106Lysfs*13) in the EYS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 39 amino acid(s) of the EYS protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with an EYS-related condition (PMID: 29550188). ClinVar contains an entry for this variant (Variation ID: 557700). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant disrupts a region of the EYS protein in which other variant(s) (p.Val3096Leufs*28) have been determined to be pathogenic (PMID: 18976725, 20333770, 24474277, 25356976, 26261414, 29550188). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV000673873 SCV002519623 pathogenic Retinitis pigmentosa 25 2022-05-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV000673873 SCV004192891 pathogenic Retinitis pigmentosa 25 2024-02-25 criteria provided, single submitter clinical testing
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV000787602 SCV000926585 likely pathogenic Retinitis pigmentosa 2018-04-01 no assertion criteria provided research
Natera, Inc. RCV000673873 SCV002083453 pathogenic Retinitis pigmentosa 25 2020-08-06 no assertion criteria provided clinical testing

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